Tyrosinemia
| Image = L-tyrosine-skeletal.png | Caption = Tyrosine | DiseasesDB = 13478 | DiseasesDB_mult = | ICD10 = | ICD9 = | ICDO = | OMIM = 276700 | OMIM_mult = | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 2339 | MeshID = D020176 | }} Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine. Tyrosinemia is inherited in an autosomal recessive pattern. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme. Types pattern.]] Type I tyrosinemia Type I tyrosinemia ( ) is the most severe form of this disorder and is caused by a shortage of the enzyme fumarylacetoacetate hydrolase ( ), encoded by the gene FAH found on chromosome number 15. Fumarylacetoacetate hydrolase is the last in a series of five enzymes needed to break down tyrosine. Symptoms of type I tyrosinemia usually appear in the first few months of life and include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes (jaundice), cabbagelike odor, and increased tendency to bleed (particularly nosebleeds). Type I tyrosinemia can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. Worldwide, type I tyrosinemia affects about 1 person in 100,000. This type of tyrosinemia is much more common in Quebec, Canada. The overall incidence in Quebec is about 1 in 16,000 individuals. In the Saguenay-Lac-Saint-Jean region of Quebec, type 1 tyrosinemia affects 1 person in 1,846. Type II tyrosinemia Type II tyrosinemia ( ) is caused by a deficiency of the enzyme tyrosine aminotransferase ( ), encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals. Type III tyrosinemia Type III tyrosinemia ( ) is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase ( ), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported. Treatment Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. See also * Alkaptonuria * Ochronosis * For a thorough scientific overview of hypertyrosinemia, one can consult chapter 79 of OMMBID Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog. . For more online resources and references, see inborn errors of metabolism. External links * University of Washington * Liver Families - pediatric liver support group References Category:Genetic disorders Category:Inborn errors of metabolism pl:Tyrozynemia